Changes in Brain-Derived Neurotrophic Factor by different kind of military training / Cambios en el Factor Neurotrófico Derivado del Cerebro por diferentes tipos de entrenamiento militar

Abstract Background: Brain Derived Neurotrophic Factor (BDNF) serum levels change with age, physical exercise, and neuropsychiatric disorders such as dementia, depression, anxiety, schizophrenia, and bipolar disorder. Military personnel are physically and mental training with an increased risk of developing mental disorders. Objective: The main objective of this study was determinate the BDNF serum levels in four military samples. 132 participants, administrative personnel (control) and three different Special Operations Forces (SOF) groups participated in the study. Methods: A first group of SOFS was on a training course (SOF-TC), second group exposed to 48 hours of operational stress (SOF-48hS) and third group exposed to two-weeks of operational stress (SOF-2wS). The mini interview was conducted and CAPS, and BNF levels were determined by ELISA assays. Results: Differences in age, were evaluated by ANOVA post-hoc Tukey´s. Differences in BNDF levels are evaluated by the Kruskal-Wallis test post hoc Dunn's. Spearman's correlation was used to analyze the relationship between BDNF and age. The SOF-TC had a BDNF elevation in comparison with Control group that could be related to age differences or the physical and mental training.SOF-2wS had decreased BDNF levels in comparison to the other groups that could be related to the psychosocial stress or other mental disorders such as PTSD. That group, 2 participants showed signs of PTSD. Conclusion: BDNF levels are an accurate method for the evaluation of mental health to prevent, diagnose & treat mental disorders in military personnel exposed to operational stress.

Resumen Introducción: Los niveles séricos del factor neurotrófico derivado del cerebro (BDNF) cambian con la edad, el ejercicio físico y los trastornos neuropsiquiátricos como la demencia, la depresión, la ansiedad, la esquizofrenia y el trastorno bipolar. El personal militar está en formación física y mental con un mayor riesgo de desarrollar trastornos mentales. Objetivo: El objetivo principal de este estudio fue determinar los niveles séricos de BDNF en cuatro muestras militares. Participaron en el estudio 132 individuos entre personal administrativo (control) y tres grupos diferentes de Fuerzas de Operaciones Especiales (SOF). Métodos: Un primer grupo de SOFS estaba en un curso de capacitación (SOF-TC), el segundo grupo expuesto a 48 horas de estrés operativo (SOF-48hS) y el tercer grupo expuesto a dos semanas de estrés operativo (SOF-2wS). Se realizó la minientrevista y se determinaron los niveles de CAPS y BNF mediante ensayos ELISA. Resultados: Las diferencias en edad, se evaluaron mediante ANOVA post hoc de Tukey. Las diferencias en los niveles de BNDF se evalúan mediante la prueba de Dunn post hoc de Kruskal-Wallis. Se utilizó la correlación de Spearman para analizar la relación entre BDNF y la edad. El SOF-TC tuvo una elevación de BDNF en comparación con el grupo control que podría estar relacionado con las diferencias de edad o el entrenamiento físico y mental, tal como PTSD. En ese grupo, dos participantes mostraron signos de PTSD. Conclusión: Los niveles de BDNF son un método preciso para la evaluación de la salud mental para prevenir, diagnosticar y tratar los trastornos mentales en el personal militar expuesto al estrés operativo.

Implementation of an Algorithm of Cohort Classification to Prevent the Spread of COVID-19 in Nursing Homes.

Older adults living in nursing homes are the most vulnerable group of the COVID-19 pandemic. There are many difficulties in isolating residents and limiting the spread in this setting. We have developed a simple algorithm with a traffic light format for resident classification and sectorization within nursing homes, based on basic diagnostic tests, surveillance of symptoms onset, and close contact monitoring. We have implemented the algorithm in several centers with good data on adherence. Suggestions for implementation and evaluation are discussed.

[Study of the association between the polymorphism of the TNF-α gene and prostate cáncer]. / Estudio de la asociación entre el polimorfismo del gen TNFα y el cáncer de próstata.

BACKGROUND: Prostate cancer is the third cause of cancer death in men in the Western hemisphere and the second cause of cancer death in Zulian men from Venezuela. OBJECTIVE: To determine whether polymorphisms 308 and 238 of the tumor necrosis factor alpha (TNF-α) gene are associated with prostate cancer. METHODS: The DNA that was extracted from the peripheral blood of 40 patients with prostatic specific antigen and 40 controls was amplified by PCR plus digestion with enzymes NcoI and MspI. RESULTS: In the patients, genotypes of the TNF-α-238 polymorphism were observed in 90% GG and 10% GA; in controls, in 97.5% GG and 2.5% GA, odds ratio (OR) = 4,000 for GA. In the patients, genotypes of TNF-α-308 polymorphism were identified in 85% GG and 15% GA, and in controls in 72.5% GG and 27.5% GA, OR = 0.545 for GA and 1.172 for GG. The allelic frequencies for TNF-α-238 in patients were 95% for G and 5% for A; in controls, 98.75% for G and 1.25% for A, with OR = 4,000 for A. The allelic frequencies for TNF-α-308 in the patients were 92.5% for G and 7.5% for A. CONCLUSIONS: There weren't any statistically significant associations. The allele A of the TNF-α-238 polymorphism resulted in a considerable risk factor for prostate cancer.

Antecedentes: El cáncer de próstata es la tercera causa de muerte por cáncer en hombres del hemisferio occidental y la segunda en zulianos de Venezuela. Objetivo: Determinar si los polimorfismos 308 y 238 del gen TNFα están asociados con cáncer de próstata. Métodos: El ADN extraído de sangre periférica de 40 pacientes con antígeno prostático específico y 40 controles fue amplificado por reacción en cadena de la polimerasa más digestión con enzimas NcoI y MspI. Resultados: Respecto al polimorfismo 238 del gen TNFα, en los pacientes se observó 90 % de genotipo GG y 10 % de GA; en los controles, 97.5 % de GG y 2.5 % de GA, razón de momios (RM) = 4.000 para GA. En cuanto al polimorfismo 308, en los pacientes se identificó 85 % de genotipo GG y 15 % de GA; y en los controles, 72.5 % de GG y 27.5 % de GA, RM = 0.545 para GA y 1.172 para GG. Las frecuencias alélicas de TNFα-238 en los pacientes fue de 95 % de G y 5 % de A; en los controles, 98.75 % de G y 1.25 % de A, con RM = 4.000 para A. Las frecuencias alélicas para TNFα-308 en los pacientes fueron 92.5 % de G y 7.5 % de A. Conclusiones: No existieron asociaciones estadísticamente significativas. El alelo A del polimorfismo 238 del gen TNF-α resultó de riesgo para cáncer de próstata.

[C677T polymorphism of the methylentetrahydrofolate reductase gene in mothers of children affected with neural tube defects]. / Polimorfismo C677T del gen de la metilentetrahidrofolato reductasa en madres de ninos afectados con defectos del tubo neural.

Neural tube defects (NTD) are the most common congenital anomalies of the central nervous system, with a multifactorial pattern of inheritance, presumably involving the interaction of several genetic and environmental factors. The methylenetetrahydrofolate reductase (MTHFR) gene 677C>T polymorphism has been implicated as a risk factor for NTD. The main objective of this research was to investigate the association of the 677C>T polymorphism of the MTHFR gene as a genetic risk factor for NTD. Molecular analysis was performed in DNA samples from 52 mothers with antecedent of NTD offspring and from 119 healthy control mothers. Using the Polymerase Chain Reaction, a 198 bases pairs fragment was digested with the restriction enzyme Hinfi. 677T MTHFR allele frequencies for the problem and the control groups were 51.92% and 34.45%, respectively, and 677C MTHFR allele frequencies were 48.08% and 65.55%, respectively. There were significant differences in allele (p: 0.002) and genotype (p: 0.007) frequencies between these two groups. The odds ratio (OR) to the TT genotype vs. the CC genotype was estimated as OR: 4.9 [95% CI: 1,347-6.416] p: 0.002; CT+TT vs. CC: OR: 2.9 [95% CI: 1.347-6.416] p: 0.005; TT vs. CT+CC: OR: 2.675 [95% CI: 1,111-6.441] p: 0.024. The data presented in this study support the relationship between MTHFR 677C>T polymorphism and risk in mothers with antecedent of NTD offspring.

Polimorfismo C677T del gen de la metilentetrahidrofolato reductasa en madres de niños afectados con defectos del tubo neural / C677T polymorphism of the methylentetrahydrofolate reductase gene in mothers of children affected with neural tube defects.

Los defectos del tubo neural (DTN) son las alteraciones congénitas más frecuentes del sistema nervioso central. El mecanismo de transmisión hereditario de los DTN aislados es multifactorial, se debe a la interacción de factores ambientales y genéticos. El polimorfismo 677C>T del gen de la metilentetrahidrofolato reductasa (MTHFR) ha sido implicado como factor de riesgo para DTN. El objetivo de este trabajo fue investigar la asociación del polimorfismo 677C>T del gen de la MTHFR como factor de riesgo en los DTN. Se analizaron muestras de ADN de 52 madres con antecedente de al menos un hijo con DTN y de 119 madres controles. A través de la reacción en cadena de la polimerasa se amplificó un fragmento de 198 pb, el cual se sometió a digestión con la enzima HinfI. La frecuencia alélica de la MTHFR en los grupos problema y control fue de 51,92% y 34,45%; para el alelo T y 48,08% y 65,55%; para el C respectivamente. Se encontró diferencia significativa entre las frecuencias del alelo T y del alelo C (p: 0,002), así como entre las frecuencias genotípicas (p: 0,007) al ser comparadas en ambos grupos. El odds ratio (OR) para el genotipo TT vs CC se estimó como OR: 4,9 [IC 95%: 1,347-6,416] p: 0,002; CT+TT vs CC: OR: 2,9 [IC 95%: 1,347-6,416] p: 0,005; TT vs CT+CC: OR: 2,675 [IC 95%: 1,111-6,441] p: 0,024. Los presentes datos aportan una asociación significativa entre el polimorfismo 677C>T de la MTHFR y riesgo aumentado en las madres con antecedente de hijos con DTN.

Neural tube defects (NTD) are the most common congenital anomalies of the central nervous system, with a multifactorial pattern of inheritance, presumably involving the interaction of several genetic and environmental factors. The methylenetetrahydrofolate reductase (MTHFR) gene 677C>T polymorphism has been implicated as a risk factor for NTD. The main objective of this research was to investigate the association of the 677C>T polymorphism of the MTHFR gene as a genetic risk factor for NTD. Molecular analysis was performed in DNA samples from 52 mothers with antecedent of NTD offspring and from 119 healthy control mothers. Using the Polymerase Chain Reaction, a 198 bases pairs fragment was digested with the restriction enzyme HinfI. 677T MTHFR allele frequencies for the problem and the control groups were 51.92% and 34.45%, respectively, and 677C MTHFR allele frequencies were 48.08% and 65.55%, respectively. There were significant differences in allele (p: 0.002) and genotype (p: 0.007) frequencies between these two groups. The odds ratio (OR) to the TT genotype vs the CC genotype was estimated as OR: 4.9 [95% CI: 1,347-6.416] p: 0.002; CT+TT vs CC: OR: 2.9 [95% CI: 1.347-6.416] p: 0.005; TT vs CT+CC: OR: 2.675 [95% CI: 1,111-6.441] p: 0.024. The data presented in this study support the relationship between MTHFR 677C>T polymorphism and risk in mothers with antecedent of NTD offspring.

Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditaria / Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses

Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1 / EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de cartílago, localizadas en yuxtaposición a epífisis de huesos largos, aunque, en los casos graves, pueden presentar una amplia distribución. El inicio es variable desde los 2-3 años hasta los 13-15 y presenta una incidencia estimada que va de 1/18 000 a 1/50 000 casos en los países europeos. Se presenta el caso de un doble alelo mutante en el gen EXT1 no informado previamente en una adolescente y su familia con exostosis múltiple hereditaria.

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditariaDouble mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostosesdisease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18 000 to 1/50 000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses

Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditaria / Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses

Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1 / EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de cartílago, localizadas en yuxtaposición a epífisis de huesos largos, aunque, en los casos graves, pueden presentar una amplia distribución. El inicio es variable desde los 2-3 años hasta los 13-15 y presenta una incidencia estimada que va de 1/18 000 a 1/50 000 casos en los países europeos. Se presenta el caso de un doble alelo mutante en el gen EXT1 no informado previamente en una adolescente y su familia con exostosis múltiple hereditaria.(AU)

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses]. / Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditaria.

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the disease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18,000 to 1/50,000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses.

[C677T polymorphism of the methylentetrahydrofolate reductase gene as risk factor in women with recurrent abortion]. / Polimorfismo C677T del gen de la Metiltetrahidrofolato Reductasa como factor de riesgo en mujeres con aborto recurrente.

The pathogenesis of recurrent spontaneous abortion is multifactorial, presumably involving the interaction of several genetic and environmental factors. The methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism has been implicated as risk factor for recurrent spontaneous abortion (RA). The main objective of this research was to investigate the association between the C677T polymorphism of the MTHFR gene as a genetic risk factor for idiopathic RA. Molecular analysis was performed in 80 DNA samples from 30 patients with RA and among 50 healthy control subjects. Using the Polymerase Chain Reaction (PCR), a 198 bp (bases pairs) fragment, was digested with the restriction enzyme Hinf1, which can recognize the C > T substitution responsible for the polymorphism. 677T MTHFR allele frequencies for group with RA and the control group were 35% and 33%, respectively and 677C MTHFR allele frequencies were 65% and 67%, respectively. There was no significant difference in allele frequency between these two groups. The data presented in this study fail to support the relationship between MTHFR C677T polymorphism and risk in women with RA.

Polimorfismo C677T del gen de la metiltetrahidrofolato reductasa como factor de riesgo en mujeres con aborto recurrente / C677T polymorphism of the methylentetrahydrofolate reductase gene as risk factor in women with recurrent abortion

La patogénesis de los abortos espontáneos recurrentes es multifactorial; probablemente se debe a la interacción de varios factores ambientales y genéticos. El polimorfismo C677T del gen de la metiltetrahidrofolato reductasa (MTHFR), ha sido implicado como factor de riesgo para aborto espontáneo recurrente (AR). El objetivo de este trabajo fue investigar la asociación del polimorfismo C677T de la MTHFR como factor de riesgo en AR idiopático. Se analizaron 80 muestras de ADN, correspondientes a 30 mujeres con AR y a 50 mujeres controles. A través de la reacción en cadena de la polimerasa (PCR) se amplificó un fragmento de 198 pares de base (pb), el cual se sometió a digestión con la enzima de restricción HinfI, que reconoce el sitio de restricción creado por la transición C>T en la posición 677. La frecuencia alélica de la MTHFR en el grupo de estudio y control fue 35% y 33% respectivamente; para el alelo T y 65% y 67% respectivamente, para el alelo C. No se encontró diferencia significativa entre el alelo T ni el C al ser comparados en ambos grupos. No se demostró un factor predisponente entre el polimorfismo C677T de la MTHFR y el AR en la muestra estudiada.

The pathogenesis of recurrent spontaneous abortion is multifactorial, presumably involving the interaction of several genetic and environmental factors. The methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism has been implicated as risk factor for recurrent spontaneous abortion (RA). The main objective of this research was to investigate the association between the C677T polymorphism of the MTHFR gene as a genetic risk factor for idiopathic RA. Molecular analysis was performed in 80 DNA samples from 30 patients with RA and among 50 healthy control subjects. Using the Polymerase Chain Reaction (PCR), a 198 bp (bases pairs) fragment, was digested with the restriction enzyme HinfI, which can recognize the C > T substitution responsible for the polymorphism. 677T MTHFR allele frequencies for group with RA and the control group were 35% and 33%, respectively and 677C MTHFR allele frequencies were 65% and 67%, respectively. There was no significant difference in allele frequency between these two groups. The data presented in this study fail to support the relationship between MTHFR C677T polymorphism and risk in women with RA.